SMC1A (structural maintenance of chromosomes 1A)

2003-11-01  

Identity

HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
CDLS2,DEE85,DXS423E,EIEE85,SB1.8,SMC1,SMC1L1,SMC1alpha,SMCB
FUSION GENES

Other Information

Locus ID:

NCBI: 8243
MIM: 300040
HGNC: 11111
Ensembl: ENSG00000072501

Variants:

dbSNP: 8243
ClinVar: 8243
TCGA: ENSG00000072501
COSMIC: SMC1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072501ENST00000322213Q14683
ENSG00000072501ENST00000322213A0A384MR33
ENSG00000072501ENST00000375340G8JLG1
ENSG00000072501ENST00000428014H0Y7K8
ENSG00000072501ENST00000463684V9GYN9
ENSG00000072501ENST00000470241V9GY57

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Cell cycleKEGGhsa04110
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Establishment of Sister Chromatid CohesionREACTOMER-HSA-2468052
M PhaseREACTOMER-HSA-68886
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813
Mitotic Telophase/CytokinesisREACTOMER-HSA-68884
Cohesin Loading onto ChromatinREACTOMER-HSA-2470946
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
172739692007Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.168
182995612008Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.167
194682982009Transcriptional dysregulation in NIPBL and cohesin mutant human cells.109
160434812005RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.66
189969222009Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.47
188321532008Cohesin subunit SMC1 associates with mitotic microtubules at the spindle pole.30
203586022010Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.26
203586022010Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.26
217577802011ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control.26
258751062015Human papillomaviruses activate and recruit SMC1 cohesin proteins for the differentiation-dependent life cycle through association with CTCF insulators.23

Citation

Dessen P

SMC1A (structural maintenance of chromosomes 1A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42339/smc1a-(structural-maintenance-of-chromosomes-1a)